Search results for: anatomical variant

Authors: Sara A. Al-Jaberi, Salma Ben-Salem, Meriam Messedi, Fatma Ayadi, Lihadh Al-Gazali, Bassam R. Ali

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Background: The chemokine receptor components play crucial roles in the immune system and some of them serve as co-receptors for the HIV virus. Several studies have documented those variants in chemokine receptors are correlated with susceptibility and resistance to infection with HIV virus. For example, mutations in the chemokine receptor 5 gene (CCR5) resulting in loss-of-function (such as the homozygous CCR5Δ32) confer high degree of resistance to HIV infection. Heterozygotes for these variants exhibit slow progression to AIDS. The prevalence of CCR5 polymorphisms varies among ethnic and geographical groups. For example, the CCR5 Δ32 variant is present in 10–15% of north Europeans but is rarely encountered among Africans. This study aims to identify the prevalence of some CCR5 variants in two geographically distant Arab populations (namely Emiratis and Tunisians). Methodology: The prevalence of CCR5 gene variants including CCR5Δ32, FS299, C101X, A29S and C178R has been determined using PCR and direct DNA sequencing. A total of 403 unrelated healthy individuals (253 Emiratis and 150 Tunisians) were genotyped for the CCR5Δ32 variant using PCR amplification and gel electrophoresis. In addition, 200 Emiratis have been screened for other SNPs using Sanger DNA sequencing. Results: Among Emiratis, the allele frequency of the CCR5Δ32 variant has been found to be 0.002. In addition, two variants L55Q and A159 were found at a frequency of 0.002.Moreover, the prevalence of the CCR5Δ32 variant in Tunisians was estimated to be 0.013 which is relatively higher than its frequency in Emiratis but lower than Europeans. Conclusion: We conclude that the allele frequency of the most critical CCR5 polymorphism (Δ32) is extremely low among Emiratis compared to other Arabs and North Europeans. In addition, very low allele frequencies of other CCR5 polymorphisms have been detected among Emiratis.

Keywords: chemokine receptors, CCR5Δ32, CCR5 polymorphisms, Emiratis, Arab populations

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Authors: Edmar N. Franquera, Renato C. Mabesa, Rene Rafael C. Espino, Edralina P. Serrano, Eduardo P. Paningbatan Jr.

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The potential of growing lettuce with different colored plastic mulch silver (control), red, orange, yellow and green was evaluated using two lettuce varieties, Looseleaf and Romaine. The experiment was laid out on split plot design following the Randomized Complete Block Design. The Looseleaf variety had better performance in terms of plant fresh weight, leaf fresh weight, leaf dry weight, root length, plant height and yield. However, better response was observed in Romaine in terms of leaf diameter, leaf length, root dry weight and root fresh weight. The color of the mulch reflected different qualities of light and hence the quality of absorbed light by the lettuce plants. A higher Far red and red ratio (FR:R) was obtained from green plastic mulch which was followed by the red plastic mulch. The different colored plastic mulch affected the growth and developmental responses of leaf lettuce morphological and leaf anatomical characteristics. Data in all growth morphological and yield parameters showed that those grown with red plastic mulch had better response and had longer stomates than those lettuce grown with the other colored plastic mulch. The soil temperature 10 cm below the plastic mulch was significantly influenced by the color of the mulch. The red plastic mulch had the highest soil temperature recorded while the lowest soil temperature recorded was within the yellow plastic mulch.

Keywords: anatomical, lettuce, morpholological, plastic mulch

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Authors: Anna Jeon, Seung-Ho Han, Je-Hun Lee

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The aim of this study was to determine the location and distribution pattern of neurovascular structures superior and inferior to the clavicle by detailed dissection. Fifteen adult non-embalmed cadavers with a mean age of 71.5 years were studied. For measurements, the most prominent point of the sternal end of the clavicle (SEC) on anterior view and the most prominent point of the acromial end of the clavicle (AEC) were identified before dissection. A line connecting the SEC and AEC was used as a reference line. The surrounding neurovascular structures were investigated. The supraclavicular nerve was densely distributed at 71.73% on the reference line. Branches of the thoracoacromial artery were located at 76.92%. Branches of subclavian vein were evenly distributed at all sections. The subclavian vein and artery and brachial plexus were located from 31.3% to 57.5%. That area needs caution because major neurovascular structures run underneath the clavicle.

Keywords: clavicle, ORIF, neurovascular structure, anatomical study

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Authors: Lukáš Plošek, Jaroslav Hynšt, Jaroslav Záhora, Jakub Elbl, Antonín Kintl, Ivana Charousová, Silvia Kovácsová

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Compost can influence soil fertility and plant health. At the same time compost can play an important role in the nitrogen cycle and it can influence leaching of mineral nitrogen from soil to underground water. This paper deals with the influence of compost addition and mineral nitrogen fertilizer on leaching of mineral nitrogen, nitrogen availability in microbial biomass and plant biomass production in the lysimetric experiment. Twenty-one lysimeters were filed with topsoil and subsoil collected in the area of protection zone of underground source of drinking water - Březová nad Svitavou. The highest leaching of mineral nitrogen was detected in the variant fertilized only mineral nitrogen fertilizer (624.58 mg m-2), the lowest leaching was recorded in the variant with high addition of compost (315.51 mg m-2). On the other hand, losses of mineral nitrogen are not in connection with the losses of available form of nitrogen in microbial biomass. Because loss of mineral nitrogen was detected in variant with the least change in the availability of N in microbial biomass. The leaching of mineral nitrogen, yields as well as the results concerning nitrogen availability from the first year of long term experiment suggest that compost can positive influence the leaching of nitrogen into underground water.

Keywords: nitrogen, compost, biomass production, lysimeter

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Authors: Elena V. Lysenko

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Motivating as the leading function of a modern Human Resources Management involves issues of increasing the effectiveness of the organization in a broader context. During the formation of motivational systems, the top-management of organization should pay equal attention to both external motivation (incentive system) and internal (self-motivation). The balance of internal and external motivation harmonizes the relations between employers and employees, increases the level of job satisfaction by the organization staff, which in turn leads the organization to success and ensures the organization`s profitability and competitiveness in the market environment. The article is devoted to the study of personnel motivation system in the small metal trade company, which is located in Yekaterinburg, Russian Federation. The study took place during November-December, 2016 ordered by the Company Director to analyze the motivational potential of work (managerial aspect of motivation) and motivation of personnel (personnel aspect of motivation) with the purpose to construct a system of employees’ motivation. The research tools included 6 specially selected tests of motivation, which are: “Motivation profile of your job”, “Constructive motivational attitudes”, Tests about Motivation of achievements (1st variant: Test by А.Mehrabian by the theory of D.С.McClelland and 2nd variant: Test about leading needs according with the theory of D.С.MacClelland), Tests by T.Elers (1st variant: “Determination of the motivation towards success or to avoid failure” and 2nd variant: “Trends to achieve results or to avoid failure”). The results of the study showed only one, but fundamental problem of the whole organization: high level of both motivational potential in work and self-motivation, especially in terms of achievement motivation, but serious lack of productivity. According the results which study showed this problem is derived from insufficient staff competence. The research suggests basic guidelines in order to build the new personnel motivation system for this Company, which is planned to be developed in the nearest future.

Keywords: incentive system, motivation of achievements, motivation system, self-motivation

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Authors: Hanadi Mohamed Shawgi Gamal, Ashraf Mohamed Ahmed Abdalla

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Sudan is endowed by a great diversity of tree species; nevertheless, the utilization of wood resources has traditionally concentrated on a few number of species. With the great variation in the climatic zones of Sudan, great variations are expected in the anatomical properties between and within species. This variation needs to be fully explored in order to suggest the best uses for the species. Modern research on wood has substantiated that the climatic condition where the species grow has significant effect on wood properties. Understanding the extent of variability of wood is important because the uses for each kind of wood are related to its characteristics; furthermore, the suitability or quality of wood for a particular purpose is determined by the variability of one or more of these characteristics. The present study demonstrates the effect of rainfall zones in some anatomical properties of Acacia seyal var. seyal growing in Sudan. For this purpose, twenty healthy trees were collected randomly from two zones (ten trees per zone). One zone with relatively low rainfall (273mm annually) which represented by North Kordofan state and White Nile state and the second with relatively high rainfall (701 mm annually) represented by Blue Nile state and South Kordofan state. From each sampled tree, a stem disc (3 cm thick) was cut at 10% from stem height. One radius was obtained in central stem dices. Two representative samples were taken from each disc, one at 10% distance from pith to bark, the second at 90% in order to represent the juvenile and mature wood. The investigated anatomical properties were fibers length, fibers and vessels diameter, lumen diameter, and wall thickness as well as cell proportions. The result of the current study reveals significant differences between zones in mature wood vessels diameter and wall thickness, as well as juvenile wood vessels, wall thickness. The higher values were detected in the drier zone. Significant differences were also observed in juvenile wood fiber length, diameter as well as wall thickness. Contrary to vessels diameter and wall thickness, the fiber length, diameter as well as wall thickness were decreased in the drier zone. No significant differences have been detected in cell proportions of juvenile and mature wood. The significant differences in some fiber and vessels dimension lead to expect significant differences in wood density. From these results, Acacia seyal var. seyal seems to be well adapted with the change in rainfall and may survive in any rainfall zone.

Keywords: Acacia seyal var. seyal, anatomical properties, rainfall zones, variation

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Authors: Kulsum Maula, Md Kamrul Alam, Md Ibrahim Khalil, Md Nazmul Hasan, Mohammad Omar Faruq

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Background: Percutaneous Tube Thoracostomy (PTT) is an invasive procedure that can save a life now and then in different traumatic and non-traumatic conditions. But still, it is an enigma; how our trainee surgeons are at home in this procedure. Objectives: To evaluate the outcome of the percutaneous tube thoracostomy performed by trainees in both trauma and non-trauma patients. Study design: Prospective, Observational Study. The duration of the study was September 2018 to February 2019. Methods: All patients who need PTT in traumatic and non-traumatic conditions were selected by purposive sampling. Thereafter, they were scrutinized according to eligibility criteria and 96 patients were finalized. A pre-tested, observation-based, peer-reviewed data collection sheet was prepared before the study. Data regarding clinical and surgical outcome profiles were recorded. Data were compiled, edited, and analyzed. Results: Among 96 patients, the highest 32.29% belonged to age group 31-40 years and the lowest 9.37% belonged to the age group ≤20. The mean age of the respondents was 29.19±9.81. We found out of 96 patients, 70(72.91%) were indicated PTT for traumatic conditions and the rest 26(27.08%) were indicated PTT for non-traumatic chest conditions, where 36(37.5%) had simple penumothorax, 21(21.87%) haemothorax, 14(14.58%) massive pleural effusion, 13(13.54%) tension pneumothorax, 10(10.41%) haemopneumothorax, and 2(2.08%) had pyothorax respectively. In 53.12% of patients had right-sided intercostal chest tube (ICT) insertion, whereas 46.87% had left-sided ICT insertion. In our study, 89.55 % of the tube was placed at the normal anatomical position. Besides, 10.41% of tube thoracostomy were performed deviated from anatomical site. Among 96 patients 62.5% patients had length of incision 2-3cm, 35.41% had >3cm and 2.08% had <2cm respectively. Out of 96 patients, 75(78.13%) showed uneventful outcomes, whereas 21(21.87%) had complications, including 11.15%(11) each had wound infection, 4.46%(4) subcutaneous emphysema, 4.28%(3) drain auto expulsion, 2.85%(2) hemorrhage, 1.45%(1) had a non-functioning drain and empyema with ascending infection respectively (p=<0.05). Conclusion: PTT is a life-saving procedure that is most frequently implemented in chest trauma patients in our country. In the majority of cases, the outcome of PTT was uneventful (78.13). Besides this, more than one-third of patients had a length of incision more than 3 cm that needed extra stitches and 10.41% of cases of PTT were placed other than the normal anatomical site. Trainees of Dhaka Medical College Hospitals are doing well in their performance of PTT insertion, but still, some anatomical orientations are necessary to avoid operative and post-operative complications.

Keywords: PTT, trainee, trauma, non-chest trauma patients

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Authors: Wilai Masanga, Chirapha Tannanonta, Sangutid Thongsawad, Sasikarn Chamchod, Todsaporn Fuangrod

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The major factors of radiotherapy for head and neck (HN) cancers include patient’s anatomical changes and tumour shrinkage. These changes can significantly affect the planned dose distribution that causes the treatment plan deterioration. A measured transit EPID images compared to a predicted EPID images using gamma analysis has been clinically implemented to verify the dose accuracy as part of adaptive radiotherapy protocol. However, a global gamma analysis dose not sensitive to some critical organ changes as the entire treatment field is compared. The objective of this feasibility study is to evaluate the dosimetric response to patient anatomical changes during the treatment course in HN IMRT (Head and Neck Intensity-Modulated Radiation Therapy) using a novel comparison method; organ-of-interest gamma analysis. This method provides more sensitive to specific organ change detection. Random replanned 5 HN IMRT patients with causes of tumour shrinkage and patient weight loss that critically affect to the parotid size changes were selected and evaluated its transit dosimetry. A comprehensive physics-based model was used to generate a series of predicted transit EPID images for each gantry angle from original computed tomography (CT) and replan CT datasets. The patient structures; including left and right parotid, spinal cord, and planning target volume (PTV56) were projected to EPID level. The agreement between the transit images generated from original CT and replanned CT was quantified using gamma analysis with 3%, 3mm criteria. Moreover, only gamma pass-rate is calculated within each projected structure. The gamma pass-rate in right parotid and PTV56 between predicted transit of original CT and replan CT were 42.8%( ± 17.2%) and 54.7%( ± 21.5%). The gamma pass-rate for other projected organs were greater than 80%. Additionally, the results of organ-of-interest gamma analysis were compared with 3-dimensional cone-beam computed tomography (3D-CBCT) and the rational of replan by radiation oncologists. It showed that using only registration of 3D-CBCT to original CT does not provide the dosimetric impact of anatomical changes. Using transit EPID images with organ-of-interest gamma analysis can provide additional information for treatment plan suitability assessment.

Keywords: re-plan, anatomical change, transit electronic portal imaging device, EPID, head, and neck

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Authors: Vijay Kumar Kutala, Addepalli Pavani, M. Amresh Rao, Naushad Sm

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In this study, we evaluated the impact of CYP2C9*2 and CYP2C9*3 variants on binding and hydroxylation of warfarin. In silico data revealed that warfarin forms two hydrogen bonds with protein backbone i.e. I205 and S209, one hydrogen bond with protein side chain i.e. T301 and stacking interaction with F100 in CYP2C9*1. In CYP2C9*2 and CYP2C9*3 variants, two hydrogen bonds with protein backbone are disrupted. In double variant, all the hydrogen bonds are disrupted. The distances between C7 of S-warfarin and Fe-O in CYP2C9*1, CYP2C9*2, CYP2C9*3 and CYP2C9*2/*3 were 5.81A°, 7.02A°, 7.43° and 10.07°, respectively. The glide scores (Kcal/mol) were -7.698, -7.380, -6.821 and -6.986, respectively. Increase in warfarin/7-hydroxy warfarin ratio was observed with increase in variant alleles. To conclude, CYP2C9*2 and CYP2C9*3 variants result in disruption of hydrogen bonding interactions with warfarin and longer distance between C7 and Fe-O thus impairing warfarin 7-hydroxylation due to lower binding affinity of warfarin.

Keywords: warfarin, CYP2C9 polymorphism, personalized medicine, in Silico

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Authors: Gareth Baxter

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We use a mathematical model of language change to examine two recently observed patterns of language change: one in which most speakers change gradually, following the mean of the community change, and one in which most individuals use predominantly one variant or another, and change rapidly if they change at all. The model is based on Croft’s Utterance Selection account of language change, which views language change as an evolutionary process, in which different variants (different ‘ways of saying the same thing’) compete for usage in a population of speakers. Language change occurs when a new variant replaces an older one as the convention within a given population. The present model extends a previous simpler model to include effects related to speaker aging and interspeaker variation in behaviour. The two patterns of individual change (one more centralized and the other more polarized) were recently observed in historical language changes, and it was further observed that slower changes were more associated with the centralized pattern, while quicker changes were more polarized. Our model suggests that the two patterns of change can be explained by different balances between the preference of speakers to use one variant over another and the degree of accommodation to (propensity to adapt towards) other speakers. The correlation with the rate of change appears naturally in our model, and results from the fact that both differential weighting of variants and the degree of accommodation affect the time for change to occur, while also determining the patterns of change. This work represents part of an ongoing effort to examine phenomena in language change through the use of mathematical models. This offers another way to evaluate qualitative explanations that cannot be practically tested (or cannot be tested at all) in a real-world, large-scale speech community.

Keywords: agent based modeling, cultural evolution, language change, social behavior modeling, social influence

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Authors: Armand Okende, Joëlle De Weerdt, Esther Fichtler, Maaike De Ridder, Hans Beeckman

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The rainforest plays a crucial role in regulating the climate balance. The biodiversity of tropical rainforests is undeniable, but many aspects remain poorly known, which directly influences its management. Despite the efforts of sustainable forest management, human pressure in terms of exploitation and smuggling of timber forms a problem compared to exploited species whose status is considered "vulnerable" on the IUCN red list compiled by. Commercial species in Class III of the Democratic Republic of Congo are the least known in the market operating, and their biology is unknown or non-existent. Identification of wood in terms of descriptions and anatomical measurements of the wood is in great demand for various stakeholders such as scientists, customs, IUCN, etc. The objective of this study is the qualitative and quantitative description of the anatomical characteristics of commercial species in Class III of DR Congo. The site of the Luki Biosphere Reserve was chosen because of its high tree species richness. This study focuses on the wood anatomy of 14 commercial species of Class III of DR Congo. Thirty-four wooden discs were collected for these species. The following parameters were measured in the field: Diameter at breast height (DBH), total height and geographic coordinates. Microtomy, identification of vessel parameters (diameter, density and grouping) and photograph of the microscopic sections and determining age were performed in this study. The results obtained are detailed anatomical descriptions of species in Class III of the Democratic Republic of Congo.

Keywords: sustainable management of forest, rainforest, commercial species of class iii, vessel diameter, vessel density, grouping vessel

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Authors: Lelika Lazarus, Reshma Sookrajh, Kapil S. Satyapal

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Reflecting on teaching is commonly cited as a fundamental practice for personal and professional development. Educational research into the scholarship of teaching and learning anatomy includes engaging in discipline specific literature on teaching, reflecting on individual teaching methods and communicating these findings to peers. The aim of this paper is to formally assess the opinions of senior anatomy instructors regarding the state of anatomical knowledge at their respective institutions. The context of the paper derives from ongoing debates about the perceived decline in standards of anatomical knowledge of medical students and postgraduate learners. An open ended questionnaire was devised consisting of eight direct questions seeking opinions on anatomy teaching, knowledge, and potential educational developments and general thoughts on the teaching of anatomy to medical students. These were distributed to senior anatomy Faculty (identified by the author by their affiliation with the Anatomical Society of Southern Africa) based at the eight national medical schools within the country. A number of key themes emerged. Most senior faculty felt that the standard of medical education at their respective institutions was ‘good.’. However, emphasis was also placed on the ‘quality of teaching’ incorporating clinical scenarios. There were also indications that staff are split into those that are keen to do research and those that are happy to provide teaching to medical students as their primary function. Several challenges were also highlighted such as time constraints within the medical curriculum, the lack of cadavers to reinforce knowledge and gain depth perception and lack of appropriately qualified staff. Recommendations included fostering partnerships with both clinicians and medical scientists into the anatomy curriculum thus improving teaching and research.

Keywords: anatomy, education, reflection, teaching

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Authors: Sa`ad M. Ismail, Hung-Hsun Yen, Christina M. Murray, Helen M. S. Davies

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The lumbosacral junction (where the 7th lumbar vertebra (L7) articulates with the sacrum) is a clinically important area in the dog. The 7th lumbar vertebra (L7) is normally shorter than other lumbar vertebrae, and it has been reported that variations in the L7 length may be associated with other abnormal anatomical findings. These variations included the reduction or absence of the portion of the median sacral crest. In this study, 53 greyhound cadavers were placed in right lateral recumbency, and two lateral radiographs were taken of the lumbosacral region for each greyhound. The length of the 6th lumbar (L6) vertebra and L7 were measured using radiographic measurement software and was defined to be the mean of three lines drawn from the caudal to the cranial edge of the L6 and L7 vertebrae (a dorsal, middle, and ventral line) between specific landmarks. Sacrocaudal fusion was found in 41.5% of the greyhounds. The mean values of the length of L6, L7, and the ratio of the L6/L7 length of the greyhounds with sacrocaudal fusion were all greater than those with standard sacrums (three sacral vertebrae). There was a significant difference (P < 0.05) in the mean values of the length of L7 between the greyhounds without sacrocaudal fusion (mean = 29.64, SD ± 2.07) and those with sacrocaudal fusion (mean = 30.86, SD ± 1.80), but, there was no significant difference in the mean value of the length of the L6 measurement. Among different types of sacrocaudal fusion, the longest L7 was found in greyhounds with sacrum type D, intermediate length in those with sacrum type B, and the shortest was found in those with sacrums type C, and the mean values of the ratio of the L6/L7 were 1.11 (SD ± 0.043), 1.15, (SD ± 0.025), and 1.15 (SD ± 0.011) for the types B, C, and D respectively. No significant differences in the mean values of the length of L6 or L7 were found among the different types of sacrocaudal fusion. The occurrence of sacrocaudal fusion might affect direct anatomically connected structures such as the L7. The variation in the length of L7 between greyhounds with sacrocaudal fusion and those without may reflect the possible sequences of the process of fusion. Variations in the length of the L7 vertebra in greyhounds may be associated with the occurrence of sacrocaudal fusion. The variation in the vertebral length may affect the alignment and biomechanical properties of the sacrum and may alter the loading. We concluded that any variations in the sacrum anatomical features might change the function of the sacrum or the surrounding anatomical structures.

Keywords: biomechanics, Greyhound, sacrocaudal fusion, locomotion, 6th Lumbar (L6) Vertebra, 7th Lumbar (L7) Vertebra, ratio of the L6/L7 length

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Authors: Alena Semeradtova, Marcel Stofik, Lucie Mareckova, Petr Maly, Ondrej Stanek, Jan Maly

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Recently, novel strategies based on so-called molecular evolution were shown to be effective for the production of various peptide ligand libraries with high affinities to molecular targets of interest comparable or even better than monoclonal antibodies. The major advantage of these peptide scaffolds is mainly their prevailing low molecular weight and simple structure. This study describes a new high-affinity binding molecules based immunesensor using a simple optical system for human serum albumin (HSA) detection as a model molecule. We present a comparison of two variants of recombinant binders based on albumin binding domain of the protein G (ABD) performed on micropatterned glass chip. Binding domains may be tailored to any specific target of interest by molecular evolution. Micropatterened glass chips were prepared using UV-photolithography on chromium sputtered glasses. Glass surface was modified by (3-aminopropyl)trietoxysilane and biotin-PEG-acid using EDC/NHS chemistry. Two variants of high-affinity binding molecules were used to detect target molecule. Firstly, a variant is based on ABD domain fused with TolA chain. This molecule is in vivo biotinylated and each molecule contains one molecule of biotin and one ABD domain. Secondly, the variant is ABD domain based on streptavidin molecule and contains four gaps for biotin and four ABD domains. These high-affinity molecules were immobilized to the chip surface via biotin-streptavidin chemistry. To eliminate nonspecific binding 1% bovine serum albumin (BSA) or 6% fetal bovine serum (FBS) were used in every step. For both variants range of measured concentrations of fluorescently labelled HSA was 0 – 30 µg/ml. As a control, we performed a simultaneous assay without high-affinity binding molecules. Fluorescent signal was measured using inverse fluorescent microscope Olympus IX 70 with COOL LED pE 4000 as a light source, related filters, and camera Retiga 2000R as a detector. The fluorescent signal from non-modified areas was substracted from the signal of the fluorescent areas. Results were presented in graphs showing the dependence of measured grayscale value on the log-scale of HSA concentration. For the TolA variant the limit of detection (LOD) of the optical immunosensor proposed in this study is calculated to be 0,20 µg/ml for HSA detection in 1% BSA and 0,24 µg/ml in 6% FBS. In the case of streptavidin-based molecule, it was 0,04 µg/ml and 0,07 µg/ml respectively. The dynamical range of the immunosensor was possible to estimate just in the case of TolA variant and it was calculated to be 0,49 – 3,75 µg/ml and 0,73-1,88 µg/ml respectively. In the case of the streptavidin-based the variant we didn´t reach the surface saturation even with the 480 ug/ml concentration and the upper value of dynamical range was not estimated. Lower value was calculated to be 0,14 µg/ml and 0,17 µg/ml respectively. Based on the obtained results, it´s clear that both variants are useful for creating the bio-recognizing layer on immunosensors. For this particular system, it is obvious that the variant based on streptavidin molecule is more useful for biosensing on glass planar surfaces. Immunosensors based on this variant would exhibit better limit of detection and wide dynamical range.

Keywords: high affinity binding molecules, human serum albumin, optical immunosensor, protein G, UV-photolitography

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Authors: Rofida Gamal, Mostafa Mohammed, Mariam Adel, Marwa Gamal, Marwa kamal, Ayat Saber, Maha Mamdouh, Amira Emad, Mai Ramadan

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Lynch Syndrome is an inherited genetic condition associated with an increased risk of colorectal and other cancers. Detecting Lynch Syndrome in individuals is crucial for early intervention and preventive measures. This study proposes a computational pipeline for Lynch Syndrome detection by integrating alignment, variant calling, and annotation. The pipeline leverages popular tools such as FastQC, Trimmomatic, BWA, bcftools, and ANNOVAR to process the input FASTQ file, perform quality trimming, align reads to the reference genome, call variants, and annotate them. It is believed that the computational pipeline was applied to a dataset of Lynch Syndrome cases, and its performance was evaluated. It is believed that the quality check step ensured the integrity of the sequencing data, while the trimming process is thought to have removed low-quality bases and adaptors. In the alignment step, it is believed that the reads were accurately mapped to the reference genome, and the subsequent variant calling step is believed to have identified potential genetic variants. The annotation step is believed to have provided functional insights into the detected variants, including their effects on known Lynch Syndrome-associated genes. The results obtained from the pipeline revealed Lynch Syndrome-related positions in the genome, providing valuable information for further investigation and clinical decision-making. The pipeline's effectiveness was demonstrated through its ability to streamline the analysis workflow and identify potential genetic markers associated with Lynch Syndrome. It is believed that the computational pipeline presents a comprehensive and efficient approach to Lynch Syndrome detection, contributing to early diagnosis and intervention. The modularity and flexibility of the pipeline are believed to enable customization and adaptation to various datasets and research settings. Further optimization and validation are believed to be necessary to enhance performance and applicability across diverse populations.

Keywords: Lynch Syndrome, computational pipeline, alignment, variant calling, annotation, genetic markers

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Authors: Oday A. Al-Juhaishi, Sa`ad M. Ismail, Hung-Hsun Yen, Christina M. Murray, Helen M. S. Davies

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The functional anatomy of the fascia in the greyhound is still poorly understood, and incompletely described. The basic knowledge of fascia stems mainly from anatomical, histological and ultrastructural analyses. In this study, twelve specimens of hindlimbs from six fresh greyhound cadavers (3 male, 3 female) were used to examine the topographical relationships of the superficial fascia with the skin and underlying tissue. The first incision was made along the dorsal midline from the level of the thoracolumbar junction caudally to the level of the mid sacrum. The second incision was begun at the level of the first incision and extended along the midline of the lateral aspect of the hindlimb distally, to just proximal to the tarsus, and, the skin margins carefully separated to observe connective tissue links between the skin and superficial fascia, attachment points of the fascia and the relationships of the fascia with blood vessels that supply the skin. A digital camera was used to record the anatomical features as they were revealed. The dissections identified fibrous septa connecting the skin with the superficial fascia and deep fascia in specific areas. The presence of the adipose tissue was found to be very rare within the superficial fascia in these specimens. On the extensor aspects of some joints, a fusion between the superficial fascia and deep fascia was observed. This fusion created a subcutaneous bursa in the following areas: a prepatellar bursa of the stifle, a tarsal bursa caudal to the calcaneus bone, and an ischiatic bursa caudal to the ischiatic tuberosity. The evaluation of blood vessels showed that the perforating vessels passed through fibrous septa in a perpendicular direction to supply the skin, with the largest branch noted in the gluteal area. The attachment points between the superficial fascia and skin were mainly found in the region of the flexor aspect of the joints, such as caudal to the stifle joint. The numerous fibrous septa between the superficial fascia and skin that have been identified in some areas, may create support for the blood vessels that penetrate fascia and into the skin, while allowing for movement between the tissue planes. The subcutaneous bursae between the skin and the superficial fascia where it is fused with the deep fascia may be useful to decrease friction between moving areas. The adhesion points may be related to the integrity and loading of the skin. The attachment points fix the skin and appear to divide the hindlimb into anatomical compartments.

Keywords: attachment points, fibrous septa, greyhound, subcutaneous bursa, superficial fascia

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Authors: Manendra Singh Parihar, Sandip Ghosh Chowdhury

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Austenitic stainless steels are widely used and give a good combination of properties. When this steel is plastically deformed, a phase transformation of the metastable Face Centred Cubic Austenite to the stable Body Centred Cubic (α’) or to the Hexagonal close packed (ԑ) martensite may occur, leading to the enhancement in the mechanical properties like strength. The work was based on variant selection and corresponding texture analysis for the strain induced martensitic transformation during deformation of the parent austenite FCC phase to form the product HCP and the BCC martensite phases separately, obeying their respective orientation relationships. The automated method for reconstruction of the parent phase orientation using the EBSD data of the product phase orientation is done using the MATLAB and TSL-OIM software. The method of triplets was used which involves the formation of a triplet of neighboring product grains having a common variant and linking them using a misorientation-based criterion. This led to the proper reconstruction of the pre-transformation phase orientation data and thus to its microstructure and texture. The computational speed of current method is better compared to the previously used methods of reconstruction. The reconstruction of austenite from ԑ and α’ martensite was carried out for multiple samples and their IPF images, pole figures, inverse pole figures and ODFs were compared. Similar type of results was observed for all samples. The comparison gives the idea for estimating the correct sequence of the transformation i.e. γ → ε → α’ or γ → α’, during deformation of AISI 304 austenitic stainless steel.

Keywords: variant selection, reconstruction, EBSD, austenitic stainless steel, martensitic transformation

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Authors: Gabriele Barrocas, Habon Issa

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The amygdala is one of various brain regions that tend to be pathological in individuals with autism spectrum disorder (ASD). ASD is a prevalent and heterogeneous developmental disorder affecting all ethnic and socioeconomic groups and consists of a broad range of severity, etiology, and behavioral symptoms. Common features of ASD include but are not limited to repetitive behaviors, obsessive interests, and anxiety. Neuroscientists view the amygdala as the core of the neural system that regulates behavioral responses to anxiogenic and threatening stimuli. Despite this consensus, many previous studies and literature reviews on the amygdala’s alterations in individuals with ASD have reported inconsistent findings. In this review, we will address these conflicts by highlighting recent studies which reveal that anatomical and related socio-emotional differences detected between individuals with and without ASD are highly age-dependent. We will specifically discuss studies using functional magnetic resonance imaging (fMRI), structural MRI, and diffusion tensor imaging (DTI) to provide insights into the neuroanatomical substrates of ASD across development, with a focus on amygdala volumes, cell densities, and connectivity.

Keywords: autism, amygdala, development, abnormalities

Procedia PDF Downloads 93

Authors: Chang Soo Chon, Cheol Woong Ko, Han Sung Kim

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The aim of this study is to develop an anterior lumbar interbody fusion (ALIF) PEEK cage suitable for Korean people. In this study, CT images were obtained from Korean male (173cm, 71kg) and 3D Korean lumbar models were reconstructed based on the CT images to investigate anatomical characteristics. Major design parameters of anterior lumbar interbody fusion (ALIF) PEEK Cage were selected using the morphological measurement information of the Korean Lumbar models. Through finite element analysis and mechanical tests, the developed ALIF PEEK Cage prototype was compared with the Fidji Cage (Zimmer.Inc, USA) and it was found that the ALIF prototype showed similar and/or superior mechanical performance compared to the FidJi Cage. Also, clinical validation for the ALIF PEEK Cage prototype was carried out to check predictable troubles in surgical operations. Finally, it is considered that the convenience and stability of the prototype was clinically verified.

Keywords: inter-body anterior fusion, ALIF cage, PEEK, Korean lumbar, CT image, animal test

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Authors: M. G. Gopisankar, A. Surendiran, M. Hemachandren

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The dose requirement of warfarin to achieve target INR range varies in patients with prosthetic heart valve. This variation in is affected by both genetic and non-genetic factors. Earlier studies have identified role of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirement. Warfarin being a substrate for drug transporter, P-glycoprotein coded by ABCB1 gene, may also be influenced by its genetic polymorphisms. This study was aimed to study the effect of single nucleotide polymorphism (SNP), ABCB1 2677G > T on warfarin maintenance dose requirement in patients with steady-state International Normalized Ratio (INR). The median dose requirement was significantly different between the genotype groups GG vs. GT (35 ± 20; 42.5 ± 18, p < 0.05), GG vs. TT (35 ± 20; 41.25 ± 25, p<0.05). There was no significant difference between GT vs. TT. In conclusion, patients with variant allele require a higher weekly maintenance dose of warfarin compared to patients without variant allele.

Keywords: warfarin pharamcogenetics, pharmacogenomics of warfarin, ABCB1 and warfarin, pglycoprotein and warfarin

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Authors: Thi Thi Zin, Pyke Tin, Ikuo Kobayashi, Yoichiro Horii

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Today dairy farm experts and farmers have well recognized the importance of dairy cow Body Condition Score (BCS) since these scores can be used to optimize milk production, managing feeding system and as an indicator for abnormality in health even can be utilized to manage for having healthy calving times and process. In tradition, BCS measures are done by animal experts or trained technicians based on visual observations focusing on pin bones, pin, thurl and hook area, tail heads shapes, hook angles and short and long ribs. Since the traditional technique is very manual and subjective, the results can lead to different scores as well as not cost effective. Thus this paper proposes an algebraic geometric imaging approach for an automatic dairy cow BCS system. The proposed system consists of three functional modules. In the first module, significant landmarks or anatomical points from the cow image region are automatically extracted by using image processing techniques. To be specific, there are 23 anatomical points in the regions of ribs, hook bones, pin bone, thurl and tail head. These points are extracted by using block region based vertical and horizontal histogram methods. According to animal experts, the body condition scores depend mainly on the shape structure these regions. Therefore the second module will investigate some algebraic and geometric properties of the extracted anatomical points. Specifically, the second order polynomial regression is employed to a subset of anatomical points to produce the regression coefficients which are to be utilized as a part of feature vector in scoring process. In addition, the angles at thurl, pin, tail head and hook bone area are computed to extend the feature vector. Finally, in the third module, the extracted feature vectors are trained by using Markov Classification process to assign BCS for individual cows. Then the assigned BCS are revised by using multiple regression method to produce the final BCS score for dairy cows. In order to confirm the validity of proposed method, a monitoring video camera is set up at the milk rotary parlor to take top view images of cows. The proposed method extracts the key anatomical points and the corresponding feature vectors for each individual cows. Then the multiple regression calculator and Markov Chain Classification process are utilized to produce the estimated body condition score for each cow. The experimental results tested on 100 dairy cows from self-collected dataset and public bench mark dataset show very promising with accuracy of 98%.

Keywords: algebraic geometric imaging approach, body condition score, Markov classification, polynomial regression

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Authors: Ammar Said Ahmed, M. Reissmann, R. Bortfeldt, G. A. Brockmann

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Milk protein genetic variants are of interest for characterizing domesticated mammalian species and breeds, and for studying associations with economic traits. The aim of this work was to analyze milk protein genetic variation in the Sudanese native cattle breeds, which have been gradually declining in numbers over the last years due to the breed substitution, and indiscriminate crossbreeding. The genetic variation at three milk protein genes αS1-casein (CSN1S1), αS2-casein (CSN1S2) and ƙ-casein (CSN3) was investigated in 250 animals belonging to five Bos indicus cattle breeds of Sudan (Butana, Kenana, White-nile, Erashy and Elgash). Allele specific primers were designed for five SNPs determine the CSN1S1 variants B and C, the CSN1S2 variants A and B, the CSN3 variants A, B and H. Allele, haplotype frequencies and genetic distances (D) were calculated and the phylogenetic tree was constructed. All breeds were found to be polymorphic for the studied genes. The CSN1S1*C variant was found very frequently (>0.63) in all analyzed breeds with highest frequency (0.82) in White-nile cattle. The CSN1S2*A variant (0.77) and CSN3*A variant (0.79) had highest frequency in Kenana cattle. Eleven haplotypes in casein gene cluster were inferred. Six of all haplotypes occurred in all breeds with remarkably deferent frequencies. The estimated D ranged from 0.004 to 0.049. The most distant breeds were White-nile and Kenana (D 0.0479). The results presented contribute to the genetic knowledge of indigenous cattle and can be used for proper definition and classification of the Sudanese cattle breeds as well as breeding, utilization, and potential development of conservation strategies for local breeds.

Keywords: milk protein, genetic variation, casein haplotype, Bos indicus

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Authors: Abdusalam Sharf

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In the oil and gas industries, one of the most important issues in drilling wells is understanding the behavior of a flow through an annulus gap in a vertical position, whose outer wall is stationary whilst the inner wall rotates. The main emphasis is placed on a comparison of experimental and computational investigations into the effects of the rotation speed of the inner pipe on the axial velocity profiles. The computational investigations were carried out by employing CFD software, and Gambit and Fluent. Three turbulence models were used: standard, RNG with enhanced wall treatment, and SST model. The profiles of the axial velocity had investigated at different rotation speeds of the inner pipe with three different volumetric flow rates. The comparison results showed that the calculations satisfactorily predict the qualitative features of the axial and swirl velocity profiles and the RNG model performs the best results.

Keywords: computational fluid dynamics (CFD), SST k−ω shear-stress transport (k−ω mode variant), RNG k–ε renormalisation group (k−ε mode variant), y+ dimensionless distance from wall

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Authors: Wiwin Tyas Istikowati, Futoshi Ishiguri, Haruna Aisho, Budi Sutiya, Imam Wahyudi, Kazuya Iizuka, Shinso Yokota

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The objective of this study was to investigate the anatomical characteristics of three native fast-growing species, terap (Artocarpus elasticus Reinw. ex Blume), medang (Neolitsea latifolia (Blume) S. Moore), and balik angin (Alphitonia excelsa (Fenzel) Reissek ex Benth) growing in the secondary forest in South Kalimantan, Indonesia for evaluating the possibility of tree breeding for wood quality. Cell lengths were investigated for 5 trees in each species at several different height positions (1.0, 3.0, 5.0, 7.0, 9.0, and 11.0 m above the ground). The mean values of fiber and vessel element lengths in terap, medang, and balik angin were 1.52 and 0.44, 1.16 and 0.53, and 1.02 and 0.49 mm, respectively. Fiber length in terap and balik angin gradually increased from pith to bark, whereas it increased up to 2 cm and then became nearly constant to the bark in medang. Vessel element length was almost constant from pith to bark in terap and balik angin, while slightly increased from pith to bark in medang. Fiber length in terap has a fluctuation pattern from ground level to top of the tree. It decreased up to 3 m above the ground, increased up to 5 m, and then decreased to the top of the tree. On the other hand, vessel element length slightly increased up to 5 m above the ground, and then decreased to the top of the tree. Both fiber and vessel element lengths in medang were almost constant from ground level to top of the tree, whereas decreased from ground level to top of the tree in balik angin. Significant difference at 1% level among trees was found in both fiber and vessel element length in both radial and longitudinal directions for terap and medang. Based on obtained results, it is concluded that the wood quality in fiber and vessel element lengths of terap and medang can be improved by tree breeding programs.

Keywords: anatomical properties, fiber length, vessel elements length, fast-growing species

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Authors: Awais Ahmed, Atif Rana, Haseeb Zia, Maham Jahangir, Rashed Nazir, Faisal Dar

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Purpose: Biliary complications represent the most common cause of morbidity in living related liver donor transplantation and detailed preoperative evaluation of biliary anatomic variants is crucial for safe patient selection and improved surgical outcomes. Purpose of this study is to determine the accuracy of preoperative MRCP in predicting biliary variations when compared to intraoperative cholangiography in living related liver donors. Materials and Methods: From 44 potential donors, 40 consecutive living related liver donors (13 females and 28 males) underwent donor hepatectomy at our centre from April 2012 to August 2013. MRCP and IOC of all patients were retrospectively reviewed separately by two radiologists and a transplant surgeon.MRCP was performed on 1.5 Tesla MR magnets using breath-hold heavily T2 weighted radial slab technique. One patient was excluded due to suboptimal MRCP. The accuracy of MRCP for variant biliary anatomy was calculated. Results: MRCP accurately predicted the biliary anatomy in 38 of 39 cases (97 %). Standard biliary anatomy was predicted by MRCP in 25 (64 %) donors (100% sensitivity). Variant biliary anatomy was noted in 14 (36 %) IOCs of which MRCP predicted precise anatomy of 13 variants (93 % sensitivity). The two most common variations were drainage of the RPSD into the LHD (50%) and the triple confluence of the RASD, RPSD and LHD (21%). Conclusion: MRCP is a sensitive imaging tool for precise pre-operative mapping of biliary variations which is critical to surgical decision making in living related liver transplantation.

Keywords: intraoperative cholangiogram, liver transplantation, living related donors, magnetic resonance cholangio-pancreaticogram (MRCP)

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Authors: Aysun Sezer

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Magnetic Resonance Imaging (MRI) is one of the advanced diagnostic tools for evaluating shoulder pathologies. Proton Density (PD)-weighted MRI sequences prove highly effective in detecting edema. However, they are deficient in the anatomical identification of bones due to a trauma-induced decrease in signal-to-noise ratio and blur in the traumatized cortices. Computer-based diagnostic systems require precise segmentation, identification, and localization of anatomical regions in medical imagery. Deep learning-based object detection algorithms exhibit remarkable proficiency in real-time object identification and localization. In this study, the YOLOv8 model was employed to detect humeral head and scapular regions in 665 axial PD-weighted MR images. The YOLOv8 configuration achieved an overall success rate of 99.60% and 89.90% for detecting the humeral head and scapula, respectively, with an intersection over union (IoU) of 0.5. Our findings indicate a significant promise of employing YOLOv8-based detection for the humerus and scapula regions, particularly in the context of PD-weighted images affected by both noise and intensity inhomogeneity.

Keywords: YOLOv8, object detection, humerus, scapula, IRM

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Authors: Santhosh K. S. Annayappa, Nupur Pruthi

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The region of dentate nucleus is a common site for various pathologies like hematomas, tumours, etc. We aimed to study in detail the relationship of this region with the vermis, especially the pyramid using microscopic fibre dissection technique. To achieve this aim, 20 cerebellar hemispheres were studied from the 11 cerebellums. Dissection was performed using wooden spatulas and micro dissectors under a microscope following Klingler’s preservation technique. The relationship between the pyramid of vermis and the dentate nucleus was studied in detail. A similar relationship was studied on the MRI of randomly selected trigeminal neuralgia patients and correlated with anatomical findings. Results show the mean distance of the lateral margin of the dentate nucleus from the midline on anatomic specimens was 21.4 ± 1.8 mm (19-25 mm) and 23.4 ± 3.4 mm (15-29 mm) on right and left side, respectively. Similar measurements made on the MRI were 22.97 ± 2.0 mm (20.03-26.15 mm) on the right side and 23.98 ± 2.1 mm (21.47-27.67 mm) on the left side. The amount of white matter dissection required to reach the dentate nucleus at the pyramidal attachment area was 7.3 ± 1.0 mm (6-9 mm) on the right side and 6.8 ± 1.4 mm (5-10 mm) on the left side. It was concluded that the pyramid of vermis has a constant relationship with the dentate nucleus and can be used as an excellent landmark during surgery to localise the dentate nucleus on the suboccipital surface.

Keywords: fiber dissection, micro neurosurgery, the dentate nucleus of cerebellum, the pyramid of vermis

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Authors: Abraham Finkelman

Abstract:

Computerized Surgical Guides have been proven to be a predictable way to perform dental implants, with a relatively high accuracy in comparison to a treatment plan. When using the CSG Bone supported, it allows us to make the necessary changes of the hard tissue prior to the implant placement and after the implant placement. The CSG gives us an accurate position for the drilling, and during the implant placement it allows us to alter the vertical position of the implant altering the final position of the abutment and avoiding any risk of any damage to the adjacent anatomical structures. Any Changes required to the bone level can be done prior to the fixation of the CSG using a reduction guide, which incur extra surgical fees and the need of a second surgical guide. Any changes of the bone level after the implant placement are at the risk of damaging the implant neck surface. The technique consists of a universal system that allows us to remove the excess bone around the implant sockets prior to the implant placement which then enables us to place the implant in the vertical position with accuracy as planned with the CSG. The systems consist of a hollow pin of different sizes and diameters. Depending on the implant system that we are using. Length sizes are from 6mm-16mm and a diameter of 2.6mm-4.8mm. Upon the completion of the drilling, the pin is then inserted into the implant socket-using the insertion tool. Once the insertion tool has unscrewed the pin, we can continue with the bone reduction. The bone reduction can be done using conventional methods upon the removal of all the excess bone around the pin. The insertion tool is then screwed into the pin and the pin is then removed. We now, have the new bone level at the crest of the implant socket which is our mark for the vertical position of the implant. In some cases, when we are locating the implant very close to anatomical structures, any form of deviation to the vertical position of the implant during the surgery, can cause damage to such anatomical structures, creating irreversible damages such as paresthesia or dysesthesia of the mandibular nerve. If we are planning for immediate loading and we have done our temporary restauration in base of our computerized plan, deviation in the vertical position of the implant will affect the position of the abutment, affecting the accuracy of the temporary prosthesis, extending the working time till we adapt the prosthesis to the new position.

Keywords: bone reduction, computer aided navigation, dental implant placement, surgical guides

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Authors: Jianhua Zhang, Weiping Chen, Guanjie Chen, Jason Flannick, Emma Fikse, Glenda Smerin, Yanqin Yang, Yulong Li, John A. Hanover, William F. Simonds

Abstract:

Ethnic disparities in many diseases are well recognized and reflect the consequences of genetic, behavior, and environmental factors. However, direct scientific evidence connecting the ethnic genetic variations and the disease disparities has been elusive, which may have led to the ethnic inequalities in large scale genetic studies. Through the genome-wide analysis of data representing 185,934 subjects, including 14,955 from our own studies of the African America Diabetes Mellitus, we discovered sets of genetic variants either unique to or conserved in all ethnicities. We further developed a quantitative gene function-based high-risk variant index (hrVI) of 20,428 genes to establish profiles that strongly correlate with the subjects' self-identified ethnicities. With respect to the ability to detect human essential and pathogenic genes, the hrVI analysis method is both comparable with and complementary to the well-known genetic analysis methods, pLI and VIRlof. Application of the ethnicity-specific hrVI analysis to the type 2 diabetes mellitus (T2DM) national repository, containing 20,791 cases and 24,440 controls, identified 114 candidate T2DM-associated genes, 8.8-fold greater than that of ethnicity-blind analysis. All the genes identified are defined as either pathogenic or likely-pathogenic in ClinVar database, with 33.3% diabetes-associated and 54.4% obesity-associated genes. These results demonstrate the utility of hrVI analysis and provide the first genetic evidence by clustering patterns of how genetic variations among ethnicities may impede the discovery of diabetes and foreseeably other disease-associated genes.

Keywords: diabetes-associated genes, ethnic health disparities, high-risk variant index, hrVI, T2DM

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Authors: Mustafa Malki, Ewan R. Pearson

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Tools utilized by health care practitioners to flag potential adverse drug reactions secondary to drug-drug interactions ignore individual genetic variation, which has the potential to markedly alter the severity of these interactions. To our best knowledge, there have been limited published studies on the impact of genetic variation on drug-drug interactions. Therefore, our aim in this project is the discovery of previously unrecognized, clinically important drug-drug-gene interactions (DDGIs) within the list of most commonly used drug combinations in the UK. The UKBB database was utilized to identify the top most frequently prescribed drug combinations in the UK with at least one route of interaction (over than 200 combinations were identified). We have recognised 37 common and unique interacting genes considering all of our drug combinations. Out of around 600 potential genetic variants found in these 37 genes, 100 variants have met the selection criteria (common variant with minor allele frequency ≥ 5%, independence, and has passed HWE test). The association between these variants and the use of each of our top drug combinations has been tested with a case-control analysis under the log-additive model. As the data is cross-sectional, drug intolerance has been identified from the genotype distribution as presented by the lower percentage of patients carrying the risky allele and on the drug combination compared to those free of these risk factors and vice versa with drug tolerance. In GoDARTs database, the same list of common drug combinations identified by the UKBB was utilized here with the same list of candidate genetic variants but with the addition of 14 new SNPs so that we have a total of 114 variants which have met the selection criteria in GoDARTs. From the list of the top 200 drug combinations, we have selected 28 combinations where the two drugs in each combination are known to be used chronically. For each of our 28 combinations, three drug response phenotypes have been identified (drug stop/switch, dose decrease, or dose increase of any of the two drugs during their interaction). The association between each of the three phenotypes belonging to each of our 28 drug combinations has been tested against our 114 candidate genetic variants. The results show replication of four findings between both databases : (1) Omeprazole +Amitriptyline +rs2246709 (A > G) variant in CYP3A4 gene (p-values and ORs with the UKBB and GoDARTs respectively = 0.048,0.037,0.92,and 0.52 (dose increase phenotype)) (2) Simvastatin + Ranitidine + rs9332197 (T > C) variant in CYP2C9 gene (0.024,0.032,0.81, and 5.75 (drug stop/switch phenotype)) (3) Atorvastatin + Doxazosin + rs9282564 (T > C) variant in ABCB1 gene (0.0015,0.0095,1.58,and 3.14 (drug stop/switch phenotype)) (4) Simvastatin + Nifedipine + rs2257401 (C > G) variant in CYP3A7 gene (0.025,0.019,0.77,and 0.30 (drug stop/switch phenotype)). In addition, some other non-replicated, but interesting, significant findings were detected. Our work also provides a great source of information for researchers interested in DD, DG, or DDG interactions studies as it has highlighted the top common drug combinations in the UK with recognizing 114 significant genetic variants related to drugs' pharmacokinetic.

Keywords: adverse drug reactions, common drug combinations, drug-drug-gene interactions, pharmacogenomics

Procedia PDF Downloads 127